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Mirhosseini-Holmes-Walton Syndrome

Pigmentary Retinopathy Intellectual Disability Syndrome


Presentation

  • That is the case in the condition described by Edwards et a1 [ 19761, in which hypogonadism is also present.[docslide.us]
  • […] retinopathy-intellectual disability syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 268050 UMLS: C0796072 MeSH: - GARD: - MedDRA: - Summary This disease has been moved to Cohen syndrome The documents contained in this web site are presented[orpha.net]
  • Optic atrophy is present and vision may be reduced to light perception but nystagmus is absent. Evidence suggests that vision loss is progressive. Some patients have extensive posterior synechiae while others have been noted to have sluggish pupils.[disorders.eyes.arizona.edu]
Cerebral Palsy
  • Abstract We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy.[ncbi.nlm.nih.gov]
  • V ) of the FundaGBo Faculdade Federal de Cigncias Medicas de Porto Alegre, RS, Brazil We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy[docslide.us]
  • […] sometimes associated with hyperkeratosis follicularis Associated disorders include seizures psychomotor retardation macrocephaly and ophthalmological and other abnormalities [/FONT] [FONT "]c) Mental retardation retinal pigmentary degeneration spastic cerebral[forum.facmedicine.com]
  • Paine syndrome 0 *Cerebral Palsy *Microcephaly. Agammaglobulinemia, microcephaly, and severe dermatitis 0 *Agammaglobulinemia *Dermatitis *Microcephaly. CAMFAK syndrome 0 *Cataract *Demyelinating Diseases *Microcephaly *Agenesis of Corpus Callosum.[reference.md]
  • palsy Telangiectasia Abnormal vertebral morphology Truncal ataxia Lymphopenia Sinusitis Limb ataxia Bronchiectasis Hepatitis IgA deficiency Prematurely aged appearance Intention tremor Lymphoproliferative disorder Abnormal spermatogenesis Chronic hepatitis[mendelian.co]
Chronic Diarrhea
  • We evaluated the diagnostic accuracy of a FC assay in identifying “organic” causes of chronic diarrhea in consecutive adults and children.[scinapse.io]
Fasciculation of the Tongue
  • Neurological examination shows facial mimic preserved, eyeball movements and pupil reflexes to light symmetrically present, audition preserved, no deviation or fasciculation of the tongue, muscular weakness in the four limbs prevailing in the left hemibody[docslide.us]
Halitosis
  • Examples would be, bad breath links to halitosis, heart attack to myocardial infarction, where appropriate, these MeSH terms are automatically expanded, that is, include more specific terms.[wikivisually.com]
Narrow Hands
  • hands and feet, wide gap between toes 1 and 2, and ophthalmological signs such as optic atrophy, pigmentary alterations of fundi, and myopia [Norio et al, 19841.[updoc.site]
  • hands Neurologic Central Nervous System: severe mental retardation Skeletal Limbs: hyperextensible joints Head And Neck Teeth: prominent incisors Head And Neck Eyes: myopia decreased visual acuity retinal pigmentary degeneration Growth Weight: truncal[malacards.org]
  • The majority of patients have a short stature with small or narrow hands and feet (compared to normal) and truncal obesity in the teen years.[findzebra.com]
  • They remain small in stature and have narrow hands and feet. Most exhibit a friendly disposition. Intellectual disabilities can include mental retardation. What to Expect There is no cure for Cohen syndrome.[miniblob.com]
Hyperextensible Joints
  • Clinical: Microcephaly; severe mental retardation; hyperextensible joints; scoliosis; arachnodactyly; hypogonadism. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12 th ed.[esanatos.com]
  • The other signs re- ported by these authors were cataracts, hyperextensible joints, arachnodactyly, and mild scoliosis. All of these findings except cataracts are present in our patients.[docslide.us]
  • joints Head And Neck Teeth: prominent incisors Head And Neck Eyes: myopia decreased visual acuity retinal pigmentary degeneration Growth Weight: truncal obesity Growth Height: short stature, moderate Skeletal Feet: narrow feet Clinical features from[malacards.org]
  • joints, scoliosis, and arachnodactyly.[omim.org]
  • Almost all patients demonstrate some degree of intellectual impairment, a pleasant demeanor, hypotonia and hyperextensible joints, in association with the characteristic facial appearance.[docslide.com.br]
Narrow Feet
  • feet Clinical features from OMIM: 268050 Human phenotypes related to Retinopathy, Pigmentary, and Mental Retardation: 32 (show all 14) # Description HPO Frequency HPO Source Accession 1 scoliosis 32 HP:0002650 2 cataract 32 HP:0000518 3 microcephaly[malacards.org]
  • Distal limb anomalies included small narrow hands with small thumbs and fifth finger clinodactyly, and small narrow feet with short, partially overlapping toes. Radiographs showed shortening of the first metacarpals and metatarsals.[findzebra.com]
Hyperactivity
  • The combination of the following features documented in their article fits into the diagnosis: mental retardation, microcephaly, truncal obesity of moderate grade, muscular weakness, several signs of articular hypermobility, hyperactive tendon reflexes[updoc.site]
  • […] examination shows facial mimic preserved, eyeball movements and pupil reflexes to light symmetrically present, audition preserved, no deviation or fasciculation of the tongue, muscular weakness in the four limbs prevailing in the left hemibody, deep reflexes hyperactive[docslide.us]
  • Diseases related with Microphthalmia and Attention deficit hyperactivity disorder In the following list you will find some of the most common rare diseases related to Microphthalmia and Attention deficit hyperactivity disorder that can help you solving[mendelian.co]
  • Social skills Many studies have described Cohen syndrome patients as being outgoing and friendly with mild hyperactivity and severe attention deficits.[encyclopedia.com]
Excitement
  • This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients[books.google.com]
  • […] postural orthostatic tachycardia syndrome Potter's syndrome Poult Enteritis Mortality Syndrome Powell Chandra Saal Syndrome Powell Venencie Gordon syndrome Ppm-X Syndrome Prader-Willi syndrome Prader-Willi-Like Syndrome Prata Libéral Gonçalves Syndrome Pre-Excitation[rgd.mcw.edu]
Spastic Quadriplegia
  • Another condition combining pigmentary retinopathy and deafness is described by Gordon et a1 [1976], where two brothers, born to consanguineous parents, had retinitis pigmentosa, mental retardation, and spastic quadriplegia.[docslide.us]
  • Microcephaly with spastic quadriplegia 0 *Microcephaly *Quadriplegia. Microcephaly sparse hair mental retardation seizures 0 *Alopecia *Intellectual Disability *Microcephaly *Seizures.[reference.md]
Quadriplegia
  • Another condition combining pigmentary retinopathy and deafness is described by Gordon et a1 [1976], where two brothers, born to consanguineous parents, had retinitis pigmentosa, mental retardation, and spastic quadriplegia.[docslide.us]
  • Microcephaly with spastic quadriplegia 0 *Microcephaly *Quadriplegia. Microcephaly sparse hair mental retardation seizures 0 *Alopecia *Intellectual Disability *Microcephaly *Seizures.[reference.md]

Workup

  • An ex- tensive metabolic workup in our patients, including screening tests for mitochondrial, peroxisomal and fatty acid oxidation disorders did not reveal any abnormality.[docslide.com.br]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment of dermatophytoses and pityriasis versicolor with itraconazole. Rev Infect Dis 1987;9(suppl 1): 109-13. 4. Cauwenbergh G, deDonker P, Stoops K, et al.[scinapse.io]

Prognosis

  • ; median age, 35 years) and 50 children ( 20 males, 30 females; median age, 3.5... more Background The diagnosis of Undifferentiated Connective Tissue Disease (UCTD) has raised controversy over the years regarding making the diagnosis, evolution and prognosis[scinapse.io]
  • Prognosis - Jaffer Beighton syndrome Not supplied. Treatment - Jaffer Beighton syndrome Not supplied. Resources - Jaffer Beighton syndrome Not supplied.[checkorphan.org]
  • Prognosis Varying symptoms lead to varying prognosis. Mental retardation can range from mild to severe. However, there is no way to predict the level of developmental delay a specific child will experience.[encyclopedia.com]

Etiology

  • […] divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies[books.google.com]
  • […] determined according to the reference agar dilution method described by the Clinical and Laboratory Standards Institute (CLSI, formerly [scielo.org.ar] Parinaud-Syndrom Groothedde JW, Schellekens JFP, van Emden JDA, Ossewaarde JM, Schouls LM (1995) Etiology[de.dict.md]
  • This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability.[reference.md]
  • Finally, the CHARGE syndrome is also thought to be etiologically heterogeneous.[documents.tips]

Epidemiology

  • Heart Defects Which Include Floppy Or Prolapsed Mitral Valve And Ventricular Septal Defect Early Systolic Murmur Usually Disappears Later In Life Hematopoietic System Occasional Leukopenia Additional Features Obesity Occurs In Many But Not All Cases Epidemiology[neo-genetics.com]
  • These secondary periodontal inflammations should not be confused by other conditions in which an epidemiological association with periodontitis was revealed, but no causative connection was proved yet.[howlingpixel.com]
Sex distribution
Age distribution

Pathophysiology

  • GOALS OF ANESTHETIC GOVERNANCE Anesthetic directing of patients with an intracranial miscellany requires adeptness of the pharmacology of anesthetic agents and the pathophysiology of brain tumors.[sarcomacancer.org]

Prevention

  • Opitz JM, Kaveggia EG, Laxova R, Pallister PD (1982): The diagnosis and prevention of severe mental retardation. In Proceedings I of the International Conference on Preventable Aspects of Genetic Morbidity. Cairo, MarchIApril 1978, 2:117-138.[docslide.us]
  • [de.wikipedia.org] Hypothyreose Preventive Services Task Force Evidence Syntheses, formerly Systematic Evidence Reviews). Schübel J, Feldkamp J, Bergmann A, Drossard W, Voigt K. [gesundheitsinformation.de][de.dict.md]
  • Glutathione synthetase deficiency Glutathione synthetase deficiency is a rare autosomal recessive metabolic disorder that prevents the production of glutathione.[memtrick.com]
  • Jaffer Beighton syndrome * Mirhosseini-Holmes-Walton syndrome * Shprintzen-Goldberg syndrome * Haim-Munk syndrome * Lujan-Fryns syndrome * Marfan\'s syndrome * Cystathionine beta-synthase deficiency * Contractural arachnodactyly * Loeys-Dietz syndrome Prevention[checkorphan.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[momentumhealth.net]

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